A curated catalogue of human genomic structural variation




Variant Details

Variant: essv1885



Internal ID9616835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7311894..8130061hg38UCSC Ensembl
Innerchr8:7169416..7987583hg19UCSC Ensembl
Innerchr8:7156826..8024993hg18UCSC Ensembl
Innerchr8:7156826..8024993hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38818168
hg19818168
hg18868168
hg17868168
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2758147
Supporting Variants
SamplesNA18976
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, FAM66B, FAM66E, FAM90A10P, FAM90A7P, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L1P, USP17L3, USP17L4, USP17L8, ZNF705B, ZNF705G
MethodBAC aCGH
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
PlatformAgilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)essv1885
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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